Summary
A case of globoid cell leukodystrophy (Krabbe's disease) was diagnosed prenatally by demonstrating a profound deficiency of cerebroside β-galactosidase in cultured amniotic cells. The diagnosis was confirmed in the fetus aborted in the 19th week. In the cell-free amniotic fluid, normal enzyme activity was found. This finding, which had been demonstrated in a previous case, is discussed.
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Harzer, K. Prenatal diagnosis of globoid cell leukodystrophy (Krabbe's disease). Hum Genet 35, 193–196 (1977). https://doi.org/10.1007/BF00393969
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DOI: https://doi.org/10.1007/BF00393969